Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

Journal of Human Genetics

Volumn 55, Issue 3, 2010, Pages 147-154

  Kato, Tomofumi ^a,b   Nishigaki, Yutaka ^c   Noguchi, Yoshihiro ^b   Ueno, Hitomi ^c   Hosoya, Hiroko ^c   Ito, Taku ^b   Kimura, Yurika ^a   Kitamura, Ken ^b   Tanaka, Masashi ^c  

^a Tokyo Metropolitan Institute of Gerontology   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

Author keywords

Hereditary hearing loss; MELAS; Mitochondrial DNA; Mutation; Suspension array

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE LOCUS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; PERCEPTION DEAFNESS; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; DEMOGRAPHY; DNA MICROARRAY; GENETICS; HEARING IMPAIRMENT; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PROCEDURES; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DEMOGRAPHY; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETIC DISEASES, INBORN; GENETIC TESTING; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POINT MUTATION; YOUNG ADULT;

EID: 77950215268     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.143     Document Type: Article

References (57)

1. Morton, C. C. & Nance, W. E. Newborn hearing screening-a silent revolution. N. Engl. J. Med. 354, 2151-2164 (2006).
2. Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M. et al. The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123, 82-92 (2000).
3. Hutchin, T. P. & Cortopassi, G. A. Mitochondrial defects and hearing loss. Cell Mol. Life Sci. 57, 1927-1937 (2000).
4. Taylor, R. W. & Turnbull, D. M. Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6, 389-402 (2005).
5. Van Camp, G. & Smith, R. J. Maternally inherited hearing impairment. Clin. Genet. 57, 409-414 (2000).
6. Xing, G., Chen, Z. & Cao, X. Mitochondrial rRNA and tRNA and hearing function. Cell Res. 17, 227-239 (2007).
7. Casano, R. A., Bykhovskaya, Y., Johnson, D. F., Hamon, M., Torricelli, F., Bigozzi, M. et al. Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am. J. Med. Genet. 79, 388-391 (1998).
8. Fischel-Ghodsian, N., Prezant, T. R., Bu, X. & Oztas, S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am. J. Otolaryngol. 14, 399-403 (1993).
9. Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q. et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4, 289-294 (1993).
10. Bravo, O., Ballana, E. & Estivill, X. Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. Biochem. Biophys. Res. Commun. 344, 511-516 (2006).
11. Estivill, X., Govea, N., Barcelo, E., Badenas, C., Romero, E., Moral, L. et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am. J. Hum. Genet. 62, 27-35 (1998).
12. Noguchi, Y., Yashima, T., Ito, T., Sumi, T., Tsuzuku, T. & Kitamura, K. Audiovestibular findings in patients with mitochondrial A1555G mutation. Laryngoscope 114, 344-348 (2004).
13. Schapira, A. H. Mitochondrial disease. Lancet 368, 70-82 (2006).
14. van den Ouweland, J. M., Lemkes, H. H., Ruitenbeek, W., Sandkuijl, L. A., de Vijlder, M. F., Struyvenberg, P. A. et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. 1, 368-371 (1992).
15. Tamagawa, Y., Kitamura, K., Hagiwara, H., Ishida, T., Nishizawa, M., Saito, T. et al. Audiologic findings in patients with a point mutation at nucleotide 3243 of mitochondrial DNA. Ann. Otol. Rhinol. Laryngol. 106, 338-342 (1997).
16. Fuku, N., Park, K. S., Yamada, Y., Nishigaki, Y., Cho, Y. M., Matsuo, H. et al. Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am. J. Hum. Genet. 80, 407-415 (2007).
17. Nishigaki, Y., Yamada, Y., Fuku, N., Matsuo, H., Segawa, T., Watanabe, S. et al. Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females. Mitochondrion 7, 72-79 (2007).
18. Nishigaki, Y., Yamada, Y., Fuku, N., Matsuo, H., Segawa, T., Watanabe, S. et al. Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males. Hum. Genet. 120, 827-836 (2007).
19. Tanaka, M., Fuku, N., Nishigaki, Y., Matsuo, H., Segawa, T., Watanabe, S. et al. Women with mitochondrial haplogroup N9a are protected against metabolic syndrome. Diabetes 56, 518-521 (2007).
20. Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K. et al. Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. Mitochondrion, in press (2009).
21. Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L. et al. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann. Neurol. 43, 98-101 (1998).
22. Andreu, A. L., Hanna, M. G., Reichmann, H., Bruno, C., Penn, A. S., Tanji, K. et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N. Engl. J. Med. 341, 1037-1044 (1999).
23. Dunbar, S. A. Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection. Clin. Chim. Acta. 363, 71-82 (2006).
24. Ye, F., Li, M. S., Taylor, J. D., Nguyen, Q., Colton, H. M., Casey, W. M. et al. Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification. Hum. Mutat. 17, 305-316 (2001).
25. Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H., Coulson, A. R., Drouin, J. et al. Sequence and organization of the human mitochondrial genome. Nature 290, 457-465 (1981).
26. Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. & Howell, N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23, 147 (1999).
27. Nishigaki, Y., Marti, R., Copeland, W. C. & Hirano, M. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J. Clin. Invest. 111, 1913-1921 (2003).
28. Ueno, H., Nishigaki, Y., Kong, Q. P., Fuku, N., Kojima, S., Iwata, N. et al. Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia. Mitochondrion 9, 385-393 (2009).
29. Vandebona, H., Mitchell, P., Manwaring, N., Griffiths, K., Gopinath, B., Wang, J. J. et al. Prevalence of mitochondrial 1555A-G mutation in adults of European descent. N. Engl. J. Med. 360, 642-644 (2009).
30. Usami, S., Abe, S., Akita, J., Namba, A., Shinkawa, H., Ishii, M. et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J. Med. Genet. 37, 38-40 (2000).
31. Goto, Y., Nonaka, I. & Horai, S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348, 651-653 (1990).
32. Pavlakis, S. G., Phillips, P. C., DiMauro, S., De Vivo, D. C. & Rowland, L. P. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann. Neurol. 16, 481-488 (1984).
33. Sotiriou, E., Coku, J., Tanji, K., Huang, H. B., Hirano, M. & DiMauro, S. The m.3244G4A mutation in mtDNA is another cause of progressive external ophthalmoplegia. Neuromuscul. Disord. 19, 297-299 (2009).
34. Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T. et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann. Neurol. 48, 188-193 (2000).
35. McFarland, R., Taylor, R. W. & Turnbull, D. M. The neurology of mitochondrial DNA disease. Lancet Neurol. 1, 343-351 (2002).
36. Schaefer, A. M., Taylor, R. W., Turnbull, D. M. & Chinnery, P. F. The epidemiology of mitochondrial disorders-past, present and future. Biochim. Biophys. Acta. 1659, 115-120 (2004).
37. Manwaring, N., Jones, M. M., Wang, J. J., Rochtchina, E., Howard, C., Mitchell, P. et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion 7, 230-233 (2007).
38. Majamaa, K., Moilanen, J. S., Uimonen, S., Remes, A. M., Salmela, P. I., Karppa, M. et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am. J. Hum. Genet. 63, 447-454 (1998).
39. Oshima, T., Ueda, N., Ikeda, K., Abe, K. & Takasaka, T. Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan. Laryngoscope 109, 334-338 (1999).
40. Terasaki, F., Tanaka,M., Kawamura, K., Kanzaki, Y., Okabe, M.,Hayashi, T. et al. A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes. Jpn. Circ. J. 65, 691-694 (2001).
41. Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R. et al. The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am. J. Hum. Genet. 75, 910-918 (2004).
42. Sissler, M., Helm, M., Frugier, M., Giege, R. & Florentz, C. Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants. RNA 10, 841-853 (2004).
43. Man, P. Y., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M. & Chinnery, P. F. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am. J. Hum. Genet. 72, 333-339 (2003).
44. Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242, 1427-1430 (1988).
45. DiMauro, S. & Schon, E. A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348, 2656-2668 (2003).
46. Yu-Wai-Man, P., Elliott, C., Griffiths, P. G., Johnson, I. J. & Chinnery, P. F. Investigation of auditory dysfunction in Leber hereditary optic neuropathy. Acta. Ophthalmol. 86, 630-633 (2008).
47. Ceranic, B. & Luxon, L. M. Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy. J. Neurol. Neurosurg. Psychiatry 75, 626-630 (2004).
48. Andreu, A. L., Checcarelli, N., Iwata, S., Shanske, S. & DiMauro, S. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr. Res. 48, 311-314 (2000).
49. Finsterer, J. Histiocytoid cardiomyopathy: a mitochondrial disorder. Clin. Cardiol. 31, 225-227 (2008).
50. Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J. et al. Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. Mitochondrion 8, 377-382 (2008).
51. Meierhofer, D., Mayr, J. A., Ebner, S., Sperl, W. & Kofler, B. Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 5, 282-296 (2005).
52. Bannwarth, S., Procaccio, V., Rouzier, C., Fragaki, K., Poole, J., Chabrol, B. et al. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion 8, 136-145 (2008).
53. Mashima, Y., Nagano, M., Funayama, T., Zhang, Q., Egashira, T., Kudho, J. et al. Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology. Clin. Biochem. 37, 268-276 (2004).
54. Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L. & Chinnery, P. F. Pathogenic mitochondrial DNA mutations are common in the general population. Am. J. Hum. Genet. 83, 254-260 (2008).
55. White, H. E., Durston, V. J., Seller, A., Fratter, C., Harvey, J. F. & Cross, N. C. Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing. Genet. Test. 9, 190-199 (2005).
56. Leveque, M., Marlin, S., Jonard, L., Procaccio, V., Reynier, P., Amati-Bonneau, P. et al. Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur. J. Hum. Genet. 15, 1145-1155 (2007).
57. Maitra, A., Cohen, Y., Gillespie, S. E., Mambo, E., Fukushima, N., Hoque, M. O. et al. The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res. 14, 812-819 (2004).